Evidence that AEC Syndrome and Bowen–Armstrong Syndrome Are Variable Expressions of the Same Disease


Susana Kofman-Alfaro M.D. Servicio de Genética, Hospital General de México, Dr. Bálmis 148, Col. Doctores, C.P 06726, or e-mail: skofman@servidor.unam.mx.


Several clinical disorders combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These conditions have been recognized as a group of diseases with a narrow phenotypic spectrum and multiple points of overlap. We report a patient with a clinical diagnosis of AEC syndrome (ankyloblepharon, ectodermal defects, and CL/P) who additionally has some features observed in a different ED-CL/P disorder, Bowen–Armstrong syndrome. Because of this clinical overlap, we suggest that AEC syndrome and Bowen–Armstrong syndrome may be variable manifestations of the same pathologic entity.